| 基因名 | 突变 |
|---|---|
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17963171C>T,c.2692C>T,p.R898C |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17963131A>C,c.2652A>C,p.E884D |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17963123A>G,c.2644A>G,p.K882E |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17963098T>G,c.2619T>G,p.S873R |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17963006C>T,c.2527C>T,p.P843S |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17962994A>G,c.2515A>G,p.K839E |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17962994_17962998del,c.2515_2519del,p.839fs |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17962577A>G,c.2098A>G,p.I700V |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17962518C>T,c.2039C>T,p.T680I |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17962121C>A,c.1642C>A,p.L548I |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17962005C>G,c.1526C>G,p.S509W |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17955569A>G,c.1103A>G,p.N368S |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17954397G>A,c.988G>A,p.E330K |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17954027G>A,c.929G>A,p.S310N |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17954003G>A,c.905G>A,p.R302H |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17954002C>T,c.904C>T,p.R302C |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17953922G>A,c.824G>A,p.R275H |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17947927A>G,c.607A>G,p.I203V |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17947886G>A,c.566G>A,p.S189N |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17946243A>G,c.428A>G,p.N143S |
| GEN1(NM_001130009,GEN1 Holliday junction 5' flap endonuclease,908aa) | g.2:17942775T>A,c.274T>A,p.S92T |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95272605G>C,c.127C>G,p.R43G |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95272605G>A,c.127C>T,p.R43C |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95272598C>T,c.134G>A,p.R45H |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95265295G>A,c.377C>T,p.T126M |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95264375C>T,c.485G>A,p.R162Q |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95264291C>G,c.569G>C,p.G190A |
| GEM(NM_005261,GTP binding protein overexpressed in skeletal muscle,296aa) | g.8:95264265G>A,c.595C>T,p.R199X |